Management Team

Jill Wood, Chief Financial Officer, Co-Founder

Jill Wood graduated from Oregon State University with a BS in retail management and apparel design. Jill is a rare disease patient advocate as her son Jonah was diagnosed with Sanfilippo syndrome. She co-founded Jonah’s Just Begun (JJB) with her husband in 2010, a non-profit to raise awareness and support those with Sanfilippo. She built a scientific advisory board, created a comprehensive social media strategy and raised funds to support the research into Sanfilippo syndrome. In 2012 she co-founded Phoenix Nest with the aim to develop treatments for Sanfilippo Syndrome. Jill frequently lobbies on Capitol Hill with the RDLA in support of rare disease initiatives.  Jill is also a speaker at major conferences where she tells her story from mom to CEO of a rare disease organization.

Srikanth Singamsetty, Associate Director of Translational Sciences

Dr. Singamsetty graduated from Duquesne University, Pittsburgh, PA; receiving his M.S. and Ph.D. in Biology. Sri also has a B.V.Sc & A.H (DVM) from ANGRA University, Tirupati, India.  His postdoctoral work at the University of Pittsburgh was in translational research in animal models of metabolic syndrome, obesity, diabetes and sepsis (acute inflammation). He was a Study Director evaluating therapeutics, small molecule and biologic, for pharmaceutical and biotech companies in the Discovery and Safety Assessment group at Charles River Laboratories in Boston, MA. As a research project manager with the UNC Catalyst for Rare Disease at UNC Chapel Hill, Sri wrote regulatory documents to solicit FDA guidance for AAV9 gene therapy programs transitioning into clinical trials for Dr. Steven Gray. Multiple research studies he worked on are in clinical development to treat various disease indications including rare diseases.

Scientific Advisory Board

Robert Steiner, MD

Robert D. Steiner, MD, FAAP, FACMG is Editor-in-Chief of Genetics in Medicine (GIM).  He is Professor (Clinical) of Pediatrics at the University of Wisconsin (UW) School of Medicine and Public Health, Chief Medical Officer for PreventionGenetics, and geneticist and Medical Director at Marshfield Clinic Health System.  After obtaining his MD from UW, he completed a residency in pediatrics at The University of Cincinnati/Cincinnati Children’s Hospital and Medical Center.  Following residency, Dr. Steiner trained in medical genetics at The University of Washington/Seattle Children’s Hospital and Regional Medical Center. He is board certified in Pediatrics, Clinical Genetics, and Clinical Biochemical Genetics.

Steiner’s previous academic positions included Executive Director of the Marshfield Clinic Research Institute and Chief Science Officer at Marshfield Clinic, as well as Executive Associate Director of the UW Institute for Clinical and Translational Research.  For most of his career, he was a faculty member at Oregon Health & Science University (OHSU), ultimately named Credit Unions for Kids Professor of Pediatric Research, Professor of Pediatrics and Molecular & Medical Genetics, and (tenured) Vice Chair for Research in Pediatrics. Steiner also served as Chief Medical Officer for Acer Therapeutics.  Dr. Steiner is an active clinician with specific interests in inherited metabolic diseases, metabolic bone diseases, laboratory testing, and newborn screening. In addition, he is an accomplished researcher, having served as the  Principal Investigator for more than a dozen clinical trials and research studies on Smith-Lemli-Opitz Syndrome (SLOS), Osteogenesis Imperfecta, Phenylketonuria, Lysosomal Storage Diseases, and others. Steiner has authored or co-authored over 150 peer-reviewed original research articles as well as more than 80 reviews, book chapters, and letters. He’s also been a longtime reviewer and award-winning editor for a number of journals.

Dr. Steiner is a member of several professional societies, including the American Society of Human Genetics, American College of Medical Genetics and Genomics (ACMG), Society for Inherited Metabolic Disorders, and the Society for the Study of Inborn Errors of Metabolism. He has had numerous appointments on national committees and advisory boards including as a member and treasurer of the ACMG Board of Directors and of the Health Care System Research Network Board of Governors, the Institute of Medicine advisory panel on accelerating rare disease research, serving as Chair of the ACMG working group on Pompe disease, as a Standing and Steering Committee member of the Newborn Screening Translational Research Network, as an NIH Study Section ad hoc member, and as a member of the ACMG Therapeutics Committee. He was a member of the expert panel convened in 2005 by the US Health and Human Services Health Research Services Agency that reviewed the status of newborn screening in the US and recommended expansion of the program to the US Secretary of Health and Human Services.

Robert Boyd, PhD

Robert E. Boyd received his Ph.D. in 1996 from Drexel University, PA, under the supervision of Prof. Franklin A. Davis where he studied the synthetic utility of chiral sulfonamides. Dr. Boyd spent several years in the Department of Drug Discovery at the R. W. Johnson Pharmaceutical Research Institute where he focused mainly on CNS- related targets, in particular neurodegeneration. He joined Amicus Therapeutics in 2005, where he led the medicinal chemistry effort aimed at identifying novel chemical structures that function as pharmacological chaperones useful in the treatment of rare lysosomal diseases.

Elsa Shapiro, MD

For many years, Dr. Elsa Shapiro specialized in research at the University of Minnesota into numerous neurodegenerative diseases, including metabolic diseases.  Over the years she has concentrated her research on the brain outcomes of various neurodegenerative diseases in children.  She is particularly interested in the relationship of neuroimaging to cognitive outcomes in the developing child.  Currently, she is a semi-retired research consultant to the NIH-supported Lysosomal Disease Network (headquartered at the University of Minnesota), which funds and oversees more than 20 research studies of various lysosomal diseases.  She was the original Principal Investigator of the ground-breaking multicenter study “Longitudinal Studies of Brain Structure and Function in MPS Disorders,” examining longitudinal changes in quantitative neuroimaging, neuropsychological markers, quality of life, and biomarkers in more than 100 children around the country with MPS I, II, and VI.  The current Principal Investigator of this ongoing study is Chester B. Whitley, Ph.D., M.D., who is also the Principal Investigator of the Lysosomal Disease Network.  “Longitudinal Studies of Brain Structure and Function in MPS Disorders” is funded by the NIH, Genzyme Corporation and ShireHGT, as well as the National MPS Society and The Ryan Foundation.  In addition, Dr. Shapiro has been co-investigator on ShireHGT studies of the natural history of MPS IIIA and MPS IIIB, studying the cognitive and MRI changes over time to identify sensitive outcome measures that might be needed for treatment trials.  In summary, her interests lie in exploring the areas of childhood dementia and cognitive impairment using a variety of tools such as quantitative neuroimaging and neuropsychology to study diseases and conditions that affect the central nervous system.  In this era of development of new treatments, identifying assessment methods that are sensitive to treatment outcomes is crucial to the identification of effective new treatments.

Adam Shaywitz, MD PhD

Dr. Shaywitz is currently Chief Medical Officer-in-Residence at BridgeBio, Inc. Prior to this he worked for five years at BioMarin Pharmaceutical where he played key roles in the development of a number of rare disease programs including but not limited to those targeting lysosomal storage diseases and MPS disorders.  He designed and led the early stage clinical studies for the BMN 250 program in Sanfilippo Syndrome Type B and also worked closely with the research and business development teams on portfolio prioritization and in-licensing activities.  Before joining BioMarin Dr. Shaywitz spent four years at Amgen in their early clinical development group focused on advancing promising diabetes and metabolism agents into the clinic.  He received his MD and PhD degrees from Harvard Medical School and trained in adult medicine at Massachusetts General Hospital, in Boston.  He went on to pursue a clinical fellowship in endocrinology, diabetes and metabolism jointly at the Israel-Deaconess Medical Center and Joslin Diabetes Center, both in Boston, where he concurrently pursued postdoctoral studies in molecular physiology. 

Founders